Canonical Allele Identifier: PA2826590117
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25071
ClinVar RCV Id: RCV000021996
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268652.2:p.Cys398Ser
CA278309
NM_001281723.3:c.1193G>C
CA351608402
NM_001281723.3:c.1192T>A